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Bestrophin 1

This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008] (from NCBI)
Top mentioned proteins: Angiotensin II, HAD, Renin, AGE, CAN
Papers on ARB
Management of Hypertension in Diabetic Nephropathy: How Low Should We Go?
Bakris et al., Chicago, United States. In Blood Purif, Feb 2016
Very high albuminuria is a hallmark of diabetic nephropathy with reductions by either angiotensin converting enzyme inhibitors (ACEi) or angiotensin receptor blocker (ARB) monotherapy associated with slowed nephropathy progression.
A review of the influence of treatment strategies on antibiotic resistant bacteria and antibiotic resistance genes.
Kim et al., College Station, United States. In Chemosphere, Feb 2016
UNASSIGNED: Antibiotic resistant bacteria (ARB) and antibiotic resistance genes (ARG) in the aquatic environment have become an emerging contaminant issue, which has implications for human and ecological health.
Brain-Derived Neurotrophic Factor Knockdown Blocks the Angiogenic and Protective Effects of Angiotensin Modulation After Experimental Stroke.
Fagan et al., Augusta, United States. In Mol Neurobiol, Feb 2016
We aimed to investigate the involvement of the neurotrophin, brain-derived neurotrophic factor (BDNF), in ARB-mediated functional recovery after stroke.
Effects of azilsartan medoxomil compared with olmesartan and valsartan on ambulatory and clinic blood pressure in patients with type 2 diabetes and prediabetes.
Kupfer et al., Chicago, United States. In J Hypertens, Feb 2016
Azilsartan medoxomil (AZL-M) is a potent ARB for the treatment of stages 1-2 hypertension.
Plasma Biomarkers Reflecting Profibrotic Processes in Heart Failure With a Preserved Ejection Fraction: Data From the Prospective Comparison of ARNI With ARB on Management of Heart Failure With Preserved Ejection Fraction Study.
Prospective Comparison of ARNI With ARB on Management of Heart Failure With Preserved Ejection Fraction (PARAMOUNT) Investigators et al., Graz, Austria. In Circ Heart Fail, Jan 2016
METHODS AND RESULTS: Four biomarkers, soluble form of ST2 (an interleukin-1 receptor family member), galectin-3, matrix metalloproteinase-2, and collagen III N-terminal propeptide were measured in the Prospective Comparison of ARNI With ARB on Management of Heart Failure With Preserved Ejection Fraction (PARAMOUNT) trial at baseline, 12 and 36 weeks after randomization to valsartan or LCZ696.
Angiotensin-Converting Enzyme Inhibitors or Angiotensin Receptor Blockers in Patients Without Heart Failure? Insights From 254,301 Patients From Randomized Trials.
Messerli et al., Bern, Switzerland. In Mayo Clin Proc, Jan 2016
The meta-regression analysis revealed that the difference between ACEis and ARBs compared with placebo was due to a higher placebo event rate in the ACEis trials (most of these trials were conducted a decade earlier than the ARB trials) for the outcome of all-cause mortality (P=.001), cardiovascular death (P<.001), and MI (P=.02).
The effect of angiotensin II receptor blockers on hyperuricemia.
Brown et al., Durham, United States. In Ther Adv Chronic Dis, Nov 2015
Of the eight studies identified, six explored ARB monotherapy and two studies investigated ARBs as adjunct therapy.
Calcium, TRPC channels, and regulation of the actin cytoskeleton in podocytes: towards a future of targeted therapies.
Greka et al., Boston, United States. In Pediatr Nephrol, Nov 2015
Recently, the established therapeutic benefit of angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARB) was used as a starting point to gain insight into the pathomechanism of primary podocytopathies.
Comparative efficacy and safety of blood pressure-lowering agents in adults with diabetes and kidney disease: a network meta-analysis.
Strippoli et al., Christchurch, New Zealand. In Lancet, Jun 2015
However, compared with placebo, end-stage renal disease was significantly less likely after dual treatment with an angiotensin-receptor blocker (ARB) and an angiotensin-converting-enzyme (ACE) inhibitor (odds ratio 0·62, 95% CI 0·43-0·90) and after ARB monotherapy (0·77, 0·65-0·92).
Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial.
Cripe et al., Columbus, United States. In Lancet Neurol, Feb 2015
METHODS: In this randomised, double-blind, placebo-controlled trial, boys from three centres in the USA aged 7 years or older with Duchenne muscular dystrophy, myocardial damage by late gadolinium enhancement cardiac MRI and preserved ejection fraction received either eplerenone 25 mg or placebo orally, every other day for the first month and once daily thereafter, in addition to background clinician-directed therapy with either angiotensin-converting enzyme inhibitors (ACEI) or angiotensin receptor blockers (ARB).
Angiotensin blockade in late autosomal dominant polycystic kidney disease.
HALT-PKD Trial Investigators et al., Rochester, United Kingdom. In N Engl J Med, 2015
Dual blockade of the RAAS may circumvent compensatory mechanisms that limit the efficacy of monotherapy with an angiotensin-converting-enzyme (ACE) inhibitor or angiotensin II-receptor blocker (ARB).
An update of the blockade of the renin angiotensin aldosterone system in clinical practice.
Segura et al., Salta, Argentina. In Expert Opin Pharmacother, 2014
EXPERT OPINION: Monotherapy with an angiotensin-converting enzyme inhibitor (ACEi) or an angiotensin II receptor blocker (ARB) remains valid in all the guidelines, whereas their dual combination has been discarded due to the absence of proven benefits in high CV risk patients and in patients with chronic kidney disease (CKD).
Renin inhibitors in diabetes and hypertension: an update.
Üresin et al., İstanbul, Turkey. In Excli J, 2013
RAAS (Renin Angiotensin Aldosterone System) blockers have an important role in the treatment of these patients, in this sense, ACEi and ARB remained the major treatment option in hypertension guidelines.
Combined angiotensin inhibition for the treatment of diabetic nephropathy.
VA NEPHRON-D Investigators et al., Papua New Guinea. In N Engl J Med, 2013
Conclusions Combination therapy with an ACE inhibitor and an ARB was associated with an increased risk of adverse events among patients with diabetic nephropathy.
Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.
Rosenberg et al., Jerusalem, Israel. In Am J Ophthalmol, 2012
Our data expand the mutation spectrum of BEST1 in patients with Best disease. Our frequency estimate confirms that Best disease is one of the most common causes of early macular degeneration.
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
Zhang et al., Chengdu, China. In Eye (lond), 2012
Autosomal recessive Best vitelliform macular dystrophy can be caused by the compound heterozygous mutation L41P and I201T in the BEST1 gene.
Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families.
Navarro et al., Barcelona, Spain. In Invest Ophthalmol Vis Sci, 2012
In truncating BEST1 mutations, the null phenotype associated with ARB is attributed to a substantial decrease of BEST1 expression promoted by the nonsense-mediated decay (NMD) surveillance mechanism.
Modeling the structural consequences of BEST1 missense mutations.
Zangerl et al., Philadelphia, United States. In Adv Exp Med Biol, 2011
Bestrophinopathies are a group of inherited retinal disorders primarily caused by point mutations scattered throughout the BEST1 gene.
[Minimal ocular findings in a patient with Best disease caused by the c.653G>A mutation in BEST1].
Lisková et al., Praha, Czech Republic. In Cesk Slov Oftalmol, 2011
report for the first time a phenotype-genotype correlation in a Czech patient with Best disease
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